October is Rett Syndrome Awareness Month

Photo by Shari Harris -- Ashlyn Launius attends AWANAS at The First Baptist Church in Licking.

By Shari Harris,

Co-Publisher

October has been deemed Rett Syndrome Awareness month in order to raise awareness regarding the disorder.

Rett Syndrome (also called RTS or cerebroatrophic hyperammonemia) is a rare genetic mutation that affects females in one in every 10,000 to 15,000 live births. It is found in all racial and ethnic groups, and, because the mutation is found on the X-chromosome, it affects primarily girls. Boys have one X and one Y-chromosome, compared to two X-chromosomes for girls. As a result, boys have the defect less commonly, and when they have the defect, they do not have another X-chromosome to offset the problems caused by the mutation, and usually are born with severe problems and die shortly thereafter. Characteristics of the syndrome include normal development early in life, with symptoms noted usually after 6 months of age.

Licking is home to one girl with Rett Syndrome. Ashlyn Launius is a sixth grader who returned to live in Licking this summer. She is currently being evaluated for the State School in Salem and is home schooled by her mother except for one day each week, when she attends Licking Elementary School for speech class and music class. She particularly enjoys music, and she can express when she is happy or upset. She has not been able to speak since she began losing developmental skills at eighteen months of age. She is aware of activities occurring around her. She has problems swallowing, and is unable to walk.

There are, and have been, other girls in the surrounding area affected by Rett Syndrome. These girls have frequent health issues and see many different specialists to manage the problems associated with the disorder. They require special care in school and at home.

There is a Stroll-a-thon in St. Louis every summer to raise funds and awareness for Rett Syndrome. More information is available from sarahlanius1987@gmail.com.

There are four recognized general stages of Rett Syndrome. Stage one occurs typically between 6 and 18 months and usually lasts for a period ranging from a few months to more than a year. It includes slow regression in development.

Stage two is a rapid, destructive stage, and is typically between ages one and four. It may last for weeks or months. There is rapid (or sometimes gradual) loss of hand skills and speech, characteristic hand movements develop, head growth slows, breathing problems may begin, and at times, autistic-type symptoms are noted. Functional movement is unsteady and initiating movement can be difficult.

Stage three is the plateau or pseudo-stationary stage. It is typically between ages two and ten and can last for years. Seizures are common, as well as movement problems. But this is also a time when some girls improve, in areas of alertness, engagement with the environment, attention span, and communication. This stage is typically the longest stage, with a plateau in regression maintained for most of their lives.

Stage four is the late motor deterioration stage. It can also last for years or decades. It is characterized by scoliosis, muscle weakness, abnormal muscle tone and reduced mobility. If girls were able to walk going into stage four, they may stop walking. There is usually not a loss of intellect, communication, or hand use during this stage.

Rett Syndrome is usually not inherited. The severity of the disease can vary from case to case, and there is no cure. There are treatments for the symptoms. Medications are used to manage breathing problems and seizures. Bracing and/or surgery may be necessary to manage scoliosis. Occupational and physical therapy help develop functional movement and strength. Academic, social, vocational, and support services also will vary depending on the severity of the case. The life expectancy is not determined. There are women in their 40’s and 50’s with the disorder.

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